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List of works by Isabelle Pellier

A syndrome with congenital neutropenia and mutations in G6PC3

scientific article

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry

scientific article

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

scientific article published on 18 June 2018

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

scientific article

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